PC3
MCID: PCH010
MIFTS: 43

Pachyonychia Congenita 3 (PC3)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 57 74 29 6 72
Pc3 57 74
Pachyonychia Congenita, Type 3 40
Pc-3 17

Classifications:



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MeSH 44 D053549
UMLS 72 C3714948

Summaries for Pachyonychia Congenita 3

OMIM : 57 Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (615726)

MalaCards based summary : Pachyonychia Congenita 3, also known as pc3, is related to prostate cancer and suppression of tumorigenicity 12. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Analgesics have been mentioned in the context of this disorder. Affiliated tissues include prostate, bone and breast, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 74 Pachyonychia congenita 3: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Related Diseases for Pachyonychia Congenita 3

Diseases in the Pachyonychia Congenita, Autosomal Recessive family:

Pachyonychia Congenita 1 Pachyonychia Congenita 2
Pachyonychia Congenita 3 Pachyonychia Congenita 4

Diseases related to Pachyonychia Congenita 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 11.0
2 suppression of tumorigenicity 12 10.3
3 insulin-like growth factor i 10.3
4 retinoblastoma 10.3
5 pertussis 10.3
6 insulinoma 10.3
7 familial retinoblastoma 10.3
8 severe combined immunodeficiency 10.3
9 48,xyyy 10.3
10 bone resorption disease 10.3
11 b-cell lymphoma 10.2
12 skin disease 10.2
13 pituitary tumors 10.2
14 osteogenic sarcoma 10.2
15 fibrosarcoma 10.2
16 combined t cell and b cell immunodeficiency 10.2
17 rapidly involuting congenital hemangioma 10.2
18 breast cancer 10.1
19 prostate cancer, hereditary, 3 10.1
20 familial adenomatous polyposis 10.1
21 small cell carcinoma 10.1
22 prostatitis 10.1
23 cholera 10.1
24 adenocarcinoma 10.1
25 vaccinia 10.1
26 pituitary adenoma 10.1
27 adenoma 10.1
28 hypoxia 10.1
29 hypertriglyceridemia, familial 10.1
30 multicentric carpotarsal osteolysis syndrome 10.1
31 neuroblastoma 1 10.1
32 pancreatic cancer 10.1
33 neurofibromatosis, type ii 9.9
34 alopecia, androgenetic, 1 9.9
35 colorectal cancer 9.9
36 hypercholesterolemia, familial, 1 9.9
37 endosteal hyperostosis, autosomal dominant 9.9
38 medulloblastoma 9.9
39 antigen defined by monoclonal antibody aj9 9.9
40 pheochromocytoma 9.9
41 greig cephalopolysyndactyly syndrome 9.9
42 triiodothyronine receptor auxiliary protein 9.9
43 ataxia-telangiectasia 9.9
44 hypogonadotropic hypogonadism 1 with or without anosmia 9.9
45 prostatic hyperplasia, benign 9.9
46 leukemia, acute myeloid 9.9
47 hemophagocytic lymphohistiocytosis, familial, 2 9.9
48 nasopharyngeal carcinoma 9.9
49 acute promyelocytic leukemia 9.9
50 gastric cancer 9.9

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:



Diseases related to Pachyonychia Congenita 3

Symptoms & Phenotypes for Pachyonychia Congenita 3

Human phenotypes related to Pachyonychia Congenita 3:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 32 HP:0000975
2 palmoplantar keratoderma 32 HP:0000982
3 nail dystrophy 32 HP:0008404
4 gingivitis 32 HP:0000230
5 furrowed tongue 32 HP:0000221
6 oral leukoplakia 32 HP:0002745
7 plantar hyperkeratosis 32 HP:0007556
8 onychogryposis of toenails 32 HP:0008401
9 epidermoid cyst 32 HP:0200040
10 palmar hyperkeratosis 32 HP:0010765
11 chapped lip 32 HP:0040181

Clinical features from OMIM:

615726

Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Analgesics Phase 4
3 Narcotics Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Central Nervous System Depressants Phase 4
6 Analgesics, Opioid Phase 4
7 Anesthetics Phase 4
8
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
9
Epirubicin Approved Phase 3 56420-45-2 41867
10
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
11
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
12 Tubulin Modulators Phase 3
13 Antimitotic Agents Phase 3
14 Antineoplastic Agents, Phytogenic Phase 3
15 Alkylating Agents Phase 3
16 Antibiotics, Antitubercular Phase 3
17 Albumin-Bound Paclitaxel Phase 3
18 Immunosuppressive Agents Phase 3
19 Anti-Bacterial Agents Phase 3
20 Topoisomerase Inhibitors Phase 3
21 Antirheumatic Agents Phase 3
22 Immunologic Factors Phase 3
23 Antineoplastic Agents, Alkylating Phase 3
24
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
25
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
26 Protein Kinase Inhibitors Phase 2
27
Parathyroid hormone Approved, Investigational 9002-64-6
28 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Two Plasma Concentrations of Remifentanil Through Target Controlled Anesthesia on Frequency and Intensity of Coughing During Extubation: Randomized Controlled Clinical Trial Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 Randomized Phase Ⅲ Trial Comparing Dose-dense Epirubicin and Cyclophosphamide Followed by Paclitaxel With Paclitaxel Plus Carboplatin as Adjuvant Therapy for Triple-negative Breast Cancer. Unknown status NCT01378533 Phase 3 epirubicin, cyclophosphamide, paclitaxel, carboplatin, G-CSF
3 Phase II Trial of Neoadjuvant Docetaxel and ZD 1839 (Iressa) Followed by Radical Prostatectomy in Patients With High Risk, Locally Advanced Prostate Cancer Completed NCT00242918 Phase 2 docetaxel;ZD1839
4 Effect and Mechanism of Acupuncture on Patients With Functional Dyspepsia: a Protocol for a Randomized, Assessor-blind, Sham-controlled Trial Unknown status NCT02358486
5 Improving Pain Management in Cancer Care Completed NCT00036829
6 Intervention Based on the Use of Patient Feedback Collected for Improving Patient Safety in Spanish Primary Care (PC) Centres Not yet recruiting NCT03837912

Search NIH Clinical Center for Pachyonychia Congenita 3

Genetic Tests for Pachyonychia Congenita 3

Genetic tests related to Pachyonychia Congenita 3:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 3 29 KRT6A

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

41
Prostate, Bone, Breast, Endothelial, Lung, Colon, Bone Marrow

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 7001)
# Title Authors PMID Year
1
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 8 71
22668561 2012
2
The genetic basis of pachyonychia congenita. 8 71
16250206 2005
3
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 8 71
11886499 2001
4
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 8 71
7545493 1995
5
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 8
24132595 2014
6
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 8
22264670 2012
7
The phenotypic and molecular genetic features of pachyonychia congenita. 8
21430705 2011
8
Pachyonychia Congenita 71
20301457 2006
9
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 8
9618173 1998
10
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 71
7493030 1995
11
Synthesis and cytotoxic activities of novel copper and silver complexes of 1,3-diaryltriazene-substituted sulfonamides. 38
30362387 2019
12
(E)-N'-Arylidene-2-(4-oxoquinazolin-4(3H)-yl) acetohydrazides: Synthesis and evaluation of antitumor cytotoxicity and caspase activation activity. 38
30734614 2019
13
MiR-30a-5p frequently downregulated in prostate cancer inhibits cell proliferation via targeting PCLAF. 38
30669858 2019
14
Nanoscale AFM-IR spectroscopic imaging of lipid heterogeneity and effect of irradiation in prostate cancer cells. 38
31300624 2019
15
3D porous chitosan-alginate scaffold stiffness promotes differential responses in prostate cancer cell lines. 38
31279100 2019
16
Cellulase productivity of Trichoderma reesei mutants developed in Japan varies with varying pH conditions. 38
30975564 2019
17
Novel Poly(Adenosine Diphosphate-Ribose) Polymerase (PARP) Inhibitor, AZD2461, Down-Regulates VEGF and Induces Apoptosis in Prostate Cancer Cells 38
31102368 2019
18
Metal Incorporated g-C₃N₄ Nanosheets as Potential Cytotoxic Agents for Promoting Free Radical Scavenging in Cancer Cell Lines. 38
30961695 2019
19
Synthesis of novel S-linked dihydroartemisinin derivatives and evaluation of their anticancer activity. 38
31216504 2019
20
Design, synthesis and biological evaluation of novel thieno[3,2-d]pyrimidine and quinazoline derivatives as potent antitumor agents. 38
31280016 2019
21
Discovery of 2,4-diarylaminopyrimidine derivatives bearing dithiocarbamate moiety as novel FAK inhibitors with antitumor and anti-angiogenesis activities. 38
31129452 2019
22
Distinct biological responses of metastatic castration resistant prostate cancer cells upon exposure to G-quadruplex interacting naphthalenediimide derivatives. 38
31158753 2019
23
Novel mechanism of endocrine disruption by fungicides through binding to the membrane androgen receptor, ZIP9 (SLC39A9), and antagonizing rapid testosterone induction of the intrinsic apoptotic pathway. 38
31152826 2019
24
Prostate carcinoma cell-derived exosomal MicroRNA-26a modulates the metastasis and tumor growth of prostate carcinoma. 38
31229922 2019
25
Evaluation of neurotensin receptor 1 as potential biomarker for prostate cancer theranostic use. 38
31264168 2019
26
Achieving the balance: Biphasic effects of genistein on PC-3 cells. 38
31368541 2019
27
Silymarin Enriched Extract (Silybum marianum) Additive Effect on Doxorubicin-Mediated Cytotoxicity in PC-3 Prostate Cancer Cells. 38
31288278 2019
28
Esterified Derivatives of Panaxadiol and Their Inhibitory Effect on HL-60, THP-1, and PC-3 Cell Lines. 38
31298488 2019
29
Apoptotic activity of xanthoquinodin JBIR-99, from Parengyodontium album MEXU 30054, in PC-3 human prostate cancer cells. 38
31433962 2019
30
Photoirradiation after aminolevulinic acid treatment suppresses cancer cell proliferation through the HO-1/p21 pathway. 38
31404677 2019
31
Isolation and characterization of a novel oligomeric proanthocyanidin with significant anti-cancer activities from grape stems (Vitis vinifera). 38
31427660 2019
32
Bruceadysentoside A, a new pregnane glycoside and others secondary metabolites with cytotoxic activity from brucea antidysenterica J. F. Mill. (simaroubaceae). 38
31434501 2019
33
Synthesis and cytotoxicity of the conjugates of diterpenoid isosteviol and N-acetyl-D-glucosamine. 38
31402704 2019
34
Anticancer Activity of Water-Soluble Olsalazine-PAMAM-Dendrimer-Salicylic Acid-Conjugates. 38
31412571 2019
35
Paederia foetida induces anticancer activity by modulating chromatin modification enzymes and altering pro-inflammatory cytokine gene expression in human prostate cancer cells. 38
31112703 2019
36
Synthesis and biological evaluation of PSMA-targeting paclitaxel conjugates. 38
31248772 2019
37
Cell Responses to Electrical Pulse Stimulation for Anticancer Drug Release. 38
31430890 2019
38
Design, synthesis and anticancer evaluation of novel 1,3-benzodioxoles and 1,4-benzodioxines. 38
31421253 2019
39
Excess hepsin proteolytic activity limits oncogenic signaling and induces ER stress and autophagy in prostate cancer cells. 38
31399560 2019
40
Long noncoding RNA LEF1-AS1 silencing suppresses the initiation and development of prostate cancer by acting as a molecular sponge of miR-330-5p via LEF1 repression. 38
30613973 2019
41
The dietary combination of essential oils and organic acids reduces Salmonella enteritidis in challenged chicks. 38
31393588 2019
42
In-air production of 3D co-culture tumor spheroid hydrogels for expedited drug screening. 38
31200118 2019
43
Oxime-based 19-nortestosterone-pheophorbide a conjugate: bimodal controlled release concept for PDT. 38
31414695 2019
44
In vitro and computational studies showed that perezone inhibits PARP-1 and induces changes in the redox state of K562 cells. 38
31063714 2019
45
Biological activities of marine invertebrates extracts from the northeast brazilian coast. 38
31389485 2019
46
Evaluation of Tumor-Targeting Properties of an Antagonistic Bombesin Analogue RM26 Conjugated with a Non-Residualizing Radioiodine Label Comparison with a Radiometal-Labelled Counterpart. 38
31382362 2019
47
Cytotoxicity screening of supercritical fluid extracted seaweeds and phenylpropanoids. 38
31004301 2019
48
SIRT1 Modulates the Sensitivity of Prostate Cancer Cells to Vesicular Stomatitis Virus Oncolysis. 38
31092575 2019
49
Leelamine is a Novel Lipogenesis Inhibitor in Prostate Cancer Cells In Vitro and In Vivo. 38
31395683 2019
50
MiR-1266 suppresses the growth and metastasis of prostate cancer via targeting PRMT5. 38
31378882 2019

Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KRT6A NM_005554.4(KRT6A): c.510_512CAA[2] (p.Asn172del) short repeat Pathogenic rs606231214 12:52886455-52886457 12:52492671-52492673
2 KRT6A NM_005554.4(KRT6A): c.520T> G (p.Phe174Val) single nucleotide variant Pathogenic rs28933087 12:52886453-52886453 12:52492669-52492669
3 KRT6A NM_005554.4(KRT6A): c.1414G> A (p.Glu472Lys) single nucleotide variant Pathogenic rs60554162 12:52882122-52882122 12:52488338-52488338
4 KRT6A NM_005554.4(KRT6A): c.1406T> G (p.Leu469Arg) single nucleotide variant Pathogenic rs57052654 12:52882130-52882130 12:52488346-52488346
5 KRT6A NM_005554.4(KRT6A): c.1406T> C (p.Leu469Pro) single nucleotide variant Pathogenic rs57052654 12:52882130-52882130 12:52488346-52488346
6 KRT6A NM_005554.4(KRT6A): c.511A> G (p.Asn171Asp) single nucleotide variant Pathogenic rs62635294 12:52886462-52886462 12:52492678-52492678
7 KRT6A NM_005554.4(KRT6A): c.511A> T (p.Asn171Tyr) single nucleotide variant Pathogenic rs62635294 12:52886462-52886462 12:52492678-52492678
8 KRT6A NM_005554.4(KRT6A): c.512A> G (p.Asn171Ser) single nucleotide variant Pathogenic rs58556099 12:52886461-52886461 12:52492677-52492677
9 KRT6A NM_005554.4(KRT6A): c.513C> A (p.Asn171Lys) single nucleotide variant Pathogenic rs59685571 12:52886460-52886460 12:52492676-52492676
10 KRT6A NM_005554.4(KRT6A): c.521T> C (p.Phe174Ser) single nucleotide variant Pathogenic rs61145796 12:52886452-52886452 12:52492668-52492668
11 KRT6A NM_005554.4(KRT6A): c.1460-2A> C single nucleotide variant Pathogenic rs113369052 12:52881741-52881741 12:52487957-52487957

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

74 (show all 24)
# Symbol AA change Variation ID SNP ID
1 KRT6A p.Phe174Val VAR_017075 rs28933087
2 KRT6A p.Leu469Arg VAR_017076 rs57052654
3 KRT6A p.Glu472Lys VAR_017077 rs60554162
4 KRT6A p.Arg164Pro VAR_072446 rs62635293
5 KRT6A p.Gln166Pro VAR_072447 rs267607460
6 KRT6A p.Ile167Asn VAR_072448 rs57126929
7 KRT6A p.Leu170Phe VAR_072449 rs57448541
8 KRT6A p.Asn171Asp VAR_072450 rs62635294
9 KRT6A p.Asn171Lys VAR_072451 rs59685571
10 KRT6A p.Asn171Ser VAR_072452 rs58556099
11 KRT6A p.Asn171Tyr VAR_072453 rs62635294
12 KRT6A p.Phe174Cys VAR_072455 rs61145796
13 KRT6A p.Phe174Ser VAR_072456 rs61145796
14 KRT6A p.Ser176Pro VAR_072457 rs59642296
15 KRT6A p.Ile178Asn VAR_072458 rs267607461
16 KRT6A p.Ile462Asn VAR_072459 rs57629991
17 KRT6A p.Ile462Ser VAR_072460 rs57629991
18 KRT6A p.Ala463Pro VAR_072461 rs267607462
19 KRT6A p.Thr464Pro VAR_072462 rs61293647
20 KRT6A p.Tyr465His VAR_072463 rs267607463
21 KRT6A p.Tyr465Ser VAR_072464
22 KRT6A p.Leu468Pro VAR_072465 rs59018888
23 KRT6A p.Leu468Gln VAR_072466 rs59018888
24 KRT6A p.Leu469Pro VAR_072467 rs57052654

Expression for Pachyonychia Congenita 3

Search GEO for disease gene expression data for Pachyonychia Congenita 3.

Pathways for Pachyonychia Congenita 3

GO Terms for Pachyonychia Congenita 3

Sources for Pachyonychia Congenita 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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